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Material Type: Artigo
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A novel in‐frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardationBanerjee, Santasree ; Zhao, Qiang ; Wang, Bo ; Qin, Jiale ; Yuan, Xin ; Lou, Ziwei ; Zheng, Weizeng ; Li, Huanguo ; Wang, Xiaojun ; Cheng, Xiawei ; Zhu, Yu ; Lin, Fan ; Yang, Fan ; Xu, Junyu ; Munshi, Anjana ; Das, Parimal ; Zhou, Yuanfeng ; Mandal, Kausik ; Wang, Yi ; Ayub, Muhammad ; Hirokawa, Nobutaka ; Xi, Yongmei ; Chen, Guangfu ; Li, ChenMedComm (2020), 2024-04, Vol.5 (4), p.e469-n/a [Periódico revisado por pares]China: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Treatment of Refractory Anemia with Ring Sideroblasts Associated with Marked Thrombocytosis with Lenalidomide in a Patient Testing Negative for 5q Deletion and JAK2 V617F and MPL W515K/L MutationsKeen, Ryan ; Pantin, Jeremy ; Savage, Natasha ; Dainer, Paul MHematology reports, 2016-11, Vol.8 (4), p.6592-50 [Periódico revisado por pares]Italy: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Male-to-female sex ratios of abnormalities detected by fluorescence in situ hybridization in a population of chronic lymphocytic leukemia patientsCantú, Eduardo S ; McGill, John R ; Stephenson, Christine F ; Hoffmann, Heidi M ; Tang, Lihua ; Yan, Jim ; Glassman, Armand BHematology reports, 2013-02, Vol.5 (1), p.13-17 [Periódico revisado por pares]Italy: MDPI AGTexto completo disponível |
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Material Type: Artigo
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A rare case of coinheritance of Hemoglobin H disease and sickle cell trait combined with severe iron deficiencyMedinger, Michael ; Saller, Elisabeth ; Harteveld, Cornelis L ; Lehmann, Thomas ; Graf, Lukas ; Rovo, Alicia ; Buser, Andreas ; Passweg, Jakob ; Tichelli, AndréHematology reports, 2011-12, Vol.3 (3), p.e30-e30 [Periódico revisado por pares]Italy: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Identification of the dystrophin gene deletions in DMD/BMD patients. Analysis of the reading frame shift and germinal mosaicismCovone, A E ; Caroli, F ; Cereseto, A ; Lerone, M ; Romeo, GMinerva pediatrica, 1991-03, Vol.43 (3), p.65ItalyTexto completo disponível |
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Material Type: Artigo
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Proposal for a protocol for the staging of incontinentia pigmenti in pediatric agePortaleone, D ; Taroni, F ; Micheli, S ; Moioli, M ; Pedrazzini, A ; Cognizzoli, P ; Carnelli, VMinerva pediatrica, 2007-06, Vol.59 (3), p.255-265ItalyTexto completo disponível |
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Material Type: Artigo
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Construction of deletion mutants in the phosphotransferase transport system and adenosine triphosphate-binding cassette transporters in Listeria monocytogenes and analysis of their growth under different stress conditionsCeruso, Marina ; Fratamico, Pina ; Chirollo, Claudia ; Taglialatela, Rosanna ; Cortesi, Maria Luisa ; Pepe, TizianaItalian journal of food safety, 2013-10, Vol.2 (3), p.38-e38 [Periódico revisado por pares]PAGEPress PublicationsTexto completo disponível |
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Material Type: Artigo
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TET2 Promoter DNA Methylation and Expression Analysis in Pediatric B-cell Acute Lymphoblastic LeukemiaMusialik, Ewa ; Bujko, Mateusz ; Wypych, Agnieszka ; Matysiak, Michał ; Siedlecki, Janusz AleksanderHematology reports, 2014-03, Vol.6 (1), p.5333-5333 [Periódico revisado por pares]Italy: MDPI AGTexto completo disponível |
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Material Type: Artigo
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The role of HLA-B27 molecules in the pathogenesis of ankylosing spondylitisCauli, A ; Dessole, G ; Nurchis, P P ; Vacca, A ; Mameli, A ; Garau, P ; Pala, R ; Passiu, G ; Mathieu, AReumatismo, 2011-09, Vol.54 (3), p.266 [Periódico revisado por pares]Italy: PAGEPress PublicationsTexto completo disponível |
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Material Type: Tese
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Studio del ruolo funzionale e caratterizzazione strutturale del cuprocomplesso TFF1-CuMontefusco, SandroUniversita degli studi di Salerno 2012Texto completo disponível |